Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071272G= , CM000664.2:g.29071272G= | GRCh38 |
| NC_000002.11:g.29294138G= , CM000664.1:g.29294138G= | GRCh37 |
| NC_000002.10:g.29147642G= | NCBI36 |
| NG_021427.1:g.7990C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.2990C= MANE Select | ENSP00000332809.4:p.Thr997= | |
| ENST00000331664.5:c.2990C= | ENSP00000332809.4:p.Thr997= | |
| NM_001029883.2:c.2990C= | NP_001025054.1:p.Thr997= | |
| XM_011532826.1:c.2990C= | XP_011531128.1:p.Thr997= | |
| XR_939901.1:n.185+2105G= | ||
| XR_939902.1:n.173+2117G= | ||
| NM_001029883.3:c.2990C= MANE Select | NP_001025054.1:p.Thr997= |